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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Testicular Diseases (D013733)
Parent Node: Urogenital Abnormalities (D014564)
..Starting node ..Cryptorchidism (D003456)
Child Nodes:
........Arroyo Garcia Cimadevilla syndrome (C537439)
........Carnevale syndrome (C535586)
........FRONTONASAL DYSPLASIA 2 (OMIM:613451)
........Growth mental deficiency syndrome of Myhre (C537620)
........Ichthyosis and male hypogonadism (C537365)
........Lynch Lee Murday syndrome (C537713)
........McDonough syndrome (C538158)
........Otofacioosseous-Gonadal Syndrome (C566597)
........Singh Chhaparwal Dhanda syndrome (C537341)
........Skeletal Defects, Genital Hypoplasia, And Mental Retardation (C567306)
........Torticollis keloids cryptorchidism renal dysplasia (C536970)
........Urioste Martinez-Frias syndrome (C536478)
Sister Nodes:
..Allanson Pantzar McLeod syndrome (C537048) 1
..ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Bladder Exstrophy (D001746) 1
..Calabro syndrome (C537960)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cryptorchidism (D003456) 12
..Disorders of Sex Development (D012734) 107
..DK Phocomelia Syndrome (C565618)
..Duker Weiss Siber syndrome (C535719)
..Epispadias (D004842) 1
..Genitopatellar Syndrome (C565255)
..Genitourinary Tract Anomalies (C564424)
..Hand foot uterus syndrome (C535627)
..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..Hypospadias (D007021) 17
..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..Lissencephaly, X-Linked, 2 (C564563)
..Microcephaly seizures genital hypoplasia (C537540)
..Microphthalmia, Syndromic 6 (C566440)
..Multicystic Dysplastic Kidney (D021782) 2
..Myotubular Myopathy with Abnormal Genital Development (C564561)
..Nephritis, Hereditary (D009394) 11
..Nephrosis deafness urinary tract digital malformation (C536402)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Omphalocele exstrophy imperforate anus (C537748)
..Piepkorn Karp Hickok syndrome (C535774)
..Popliteal Pterygium Syndrome (C562509)
..Proud Syndrome (C563110)
..Pyelectasis (D058536)
..Renal Adysplasia (C563261)
..Renal dysplasia - limb defects syndrome (C537754)
..Renal, Genital, and Middle Ear Anomalies (C564849)
..Retrocaval Ureter (D064749)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Rosselli-Gulienetti Syndrome (C563117)
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..Ureter, Bifid Or Double (C566012)
..Urinary Fistula (D014548) 2
..Uterine Anomalies (C562565)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2880

Name:

Cryptorchidism

Definition:

A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis.

Alternative IDs:

OMIM:219050

ParentIDs:

MESH:D013733|MESH:D014564

TreeNumbers:

C12.294.829.258 |C12.706.258 |C16.131.939.258 |C19.391.829.258

Synonyms:

Slim Mappings:

Congenital abnormality|Endocrine system disease|Urogenital disease (male)

Reference:

MedGen: D003456
MeSH: D003456
OMIM: 219050;

Genes: INSL3; RXFP2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000104	Renal agenesis
3	HP:0012741	Unilateral cryptorchidism

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_005543.3(INSL3):c.330C>G (p.Asn110Lys)	3640	INSL3	Pathogenic	121912555	RCV000015954;	N	MedGen:C0010417,OMIM:219050	19	17927729	17927729	NM_005543.3:c.330C>G	NP_005534.2:p.Asn110Lys	NC_000019.9:g.17927729G>C	OMIM Allelic Variant:146738.0001	C0010417 219050 Cryptorchidism, unilateral or bilateral
NM_005543.3(INSL3):c.305G>A (p.Arg102His)	3640	INSL3	Pathogenic	121912556	RCV000015957;	N	MedGen:C0010417,OMIM:219050	19	17927754	17927754	NM_005543.3:c.305G>A	NP_005534.2:p.Arg102His	NC_000019.9:g.17927754C>T	OMIM Allelic Variant:146738.0004	C0010417 219050 Cryptorchidism, unilateral or bilateral
NM_005543.3(INSL3):c.304C>T (p.Arg102Cys)	3640	INSL3	Pathogenic	104894698	RCV000015956;	N	MedGen:C0010417,OMIM:219050	19	17927755	17927755	NM_005543.3:c.304C>T	NP_005534.2:p.Arg102Cys	NC_000019.9:g.17927755G>A	OMIM Allelic Variant:146738.0003	C0010417 219050 Cryptorchidism, unilateral or bilateral
NM_005543.3(INSL3):c.278C>T (p.Pro93Leu)	3640	INSL3	Pathogenic	104894697	RCV000015955;	N	MedGen:C0010417,OMIM:219050	19	17927781	17927781	NM_005543.3:c.278C>T	NP_005534.2:p.Pro93Leu	NC_000019.9:g.17927781G>A	OMIM Allelic Variant:146738.0002	C0010417 219050 Cryptorchidism, unilateral or bilateral
NM_005543.3(INSL3):c.217C>T (p.Arg73Ter)	3640	INSL3	Pathogenic	398122886	RCV000030739;	N	MedGen:C0010417,OMIM:219050	19	17927842	17927842	NM_005543.3:c.217C>T	NP_005534.2:p.Arg73Ter	NC_000019.9:g.17927842G>A	OMIM Allelic Variant:146738.0005	C0010417 219050 Cryptorchidism, unilateral or bilateral
NM_130806.3(RXFP2):c.664A>C (p.Thr222Pro)	122042	RXFP2	Uncertain significance	121918303	RCV000004376;	N	MedGen:C0010417,OMIM:219050	13	32351535	32351535	NM_130806.3:c.664A>C	NP_570718.1:p.Thr222Pro	NC_000013.10:g.32351535A>C	OMIM Allelic Variant:606655.0001	C0010417 219050 Cryptorchidism, unilateral or bilateral